1. Genes and Genomic Entities
  2. SMARCA5

SMARCA5

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
OMIM: 603375, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SMARCA5 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • intellectual disability
  • postnatal microcephaly
  • hypotonia
  • failure to thrive
Tags
  • gene-checked
Green SMARCA5 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual disability
    • postnatal microcephaly
    • hypotonia
    • failure to thrive
    Tags
    • gene-checked